The preparation of reach to grasp movements in adults with Down syndrome

The aim of this study was to determine the extent to which adults with Down syndrome (DS) are able to utilise advance information to prepare reach to grasp movements. The study comprised ten adults with DS; ten children matched to an individual in the group with DS on the basis of their intellectual ability, and twelve adult controls. The participants used their right hand to reach out and grasp illuminated perspex blocks. Four target blocks were positioned on a table surface, two to each side of the midsagittal plane. In the complete precue condition, participants were provided with information specifying the location of the target. In the partial precue condition, participants were given advance information indicating the location of the object relative to the midsagittal plane (left or right). In the null condition, advance information concerning the position of the target object was entirely ambiguous. It was found that both reaction times and movement times were greater for the participants with DS than for the adults without DS. The reaction times exhibited by individuals with DS in the complete precue condition were lower than those observed in the null condition, indicating that they had utilised advance information to prepare their movements. In the group with DS, when advance information specified only the location of the target object relative to the midline, reaction times were equivalent to those obtained when ambiguous information was given. In contrast, the adults without DS exhibited reaction times that were lower in both the complete and partial precue conditions when compared to the null condition. The pattern of results exhibited by the children was similar to that of the adults without DS. The movement times exhibited by all groups were not influenced by the precue condition. In summary, our findings indicate that individuals with DS are able to use advance information if it specifies precisely the location of the target object in order to prepare a reach to grasp movement. The group with DS were unable, however, to obtain the normal advantage of advance information specifying only one dimension of the movement goal (i.e., the position of an object relative to the body midline). (C) 2001 Elsevier Science B.V. All rights reserved.

A survey of Australian consumers' attitudes towards UHT milk

A telephone survey was conducted in Melbourne and Brisbane to obtain a profile of milk consumption in Australia and determine consumers' attitudes regarding UHT milk. It was anticipated that this survey would reveal the reasons for the low level of UHT milk consumption in Australia. Pasteurised milk was the main milk type used by more than 80% of respondents. For UHT milk this figure was much lower (approximately 10%), even though two thirds of respondents had tried UHT milk. Factors that were found to influence UHT milk consumption included existing milk consumption habits, consumer perception, flavour and price. The majority of non-users of UHT milk stated habit of using other milk type as their main reason for not using UHT milk. Other reasons included poor nutritional value, poor flavour and not real/pure milk, indicating a negative consumer perception of the product. The flavour of UHT milk was identified as a problem, with nearly half of UHT milk users considering it to be worse than the flavour of pasteurised milk. However, a small proportion of UHT milk users preferred the flavour of UHT milk, with the majority of them stating that it was creamier, richer and/or stronger than the flavour of pasteurised milk. Prior to post-farmgate deregulation, price was shown to discourage consumers from using UHT milk. At the time of the survey, post-farmgate prices in Victoria were deregulated resulting in UHT milk being priced below that of pasteurised milk in some instances. This was believed to contribute to a significantly higher market share of the product in Melbourne than in Brisbane.

A microbiological study of Papillon-LeFevre syndrome in two patients

Aim-To analyse the microflora of subgingival plaque from patients with Papillon-Lefevre syndrome (PLS), which is a very rare disease characterised by palmar-plantar hyperkeratosis with precocious periodontal destruction. Methods-Bacterial isolates were identified using a combination of commercial identification kits, traditional laboratory tests, and gas liquid chromatography. Some isolates were also subjected to partial 16S rDNA sequencing. Plaque samples were also assayed for the presence of Porphyromonas gingivalis, Prevotella intermedia, and Actinobacillus actinomycetemcomitans in a quantitative enzyme linked immunosorbent assay (ELISA) using monoclonal antibodies. Results-The culture results showed that most isolates were capnophilic and facultatively anaerobic species-mainly Capnocytophaga spp and Streptococcus spp. The latter included S constellatus, S oralis, and S sanguis. Other facultative bacteria belonged to the genera gemella, kingella, leuconostoc, and stomatococcus. The aerobic bacteria isolated were species of neisseria and bacillus. Anaerobic species included Prevotella intermedia, P melaninogenica, and P nigrescens, as well as Peptostreptococcus spp. ELISA detected P gingivalis in one patient in all sites sampled, whereas A actinomycetemcomitans was detected in only one site from the other patient. Prevotella intermedia was present in low numbers. Conclusions-Patients with PLS have a very complex subgingival flora including recognised periodontal pathogens. However, no particular periodontopathogen is invariably associated with PLS.

Aetiology of Papillon LeFevre Syndrome

Papillon LeFevre Syndrome, or PLS, was first described over 70 years ago. It is characterised by severe periodontal disease, typically leading to loss of teeth by adolescence, combined with palmoplantar hyperkeratosis. The fact that it is associated with consanguinity in particular ethnic groups suggests that genotype may contribute to the aetiology of this syndrome. Microbiological studies have been hampered by the rareness of the condition which makes prospective studies virtually impossible to perform. Numerous studies on small groups of patients, sometimes single cases, together suggest an association of recognised periodontal pathogens with PLS. Actinobacillus actinomycetemcomitans has been especially linked to PLS and raised levels of antibody to A.a. have been measured in some PLS patients, though not others. Porphyromonas gingivalis and Prevotella intermedia have also been detected in plaque samples from PLS, using monoclonal antibodies. Many other species have also been associated with PLS following culture and identification, as well as use of probes. Treatment has been attempted by eradication of periodontal pathogens so that teeth can erupt into a 'safe' environment. Successful treatment has needed intensive treatment and monitoring and good oral hygiene as well as thorough antibiotic therapy of patient, family members and even pets. Recently a Cathepsin C genotype has been strongly linked to PLS. However, this gene cannot account for all features of PLS and we can speculate that additional genes must be involved. It is concluded that PLS results from a combination of host and bacterial factors, including recessive human gene(s) associated with consanguinity, specific periodontal pathogens and lack of thorough oral hygiene. It is also believed that the human genetic component may merit examination as a 'host factor' in other bacterial infections. (C) 2001 Academic Press.

Finding gold in our shadow: psychotherapy and the shadow syndrome

Drawing on the work of Carl Jung and Robert Bly, Yaro Starak explores how 'shadow work' can be used within a Gestalt group therapy environment to uncover the 'gold in our shadow bags' - hidden inner strengths and resources that we were previously unaware of that may lead to healing and transformation. (editor abstract)

Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3

We report on a patient with a severe premature calvarial synostosis and epidermal hyperplasia. The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. Subsequently, molecular analysis of the FGFR3 receptor gene identified a heterozygous P250R missense mutation in both the proposita and her mildly affected father. This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes. (C) 2001 Wiley-Liss, Inc.

Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copperATPase

Wilson disease is an autosomal recessive copper transport disorder resulting from defective biliary excretion of copper and subsequent hepatic copper accumulation and liver failure if not treated. The disease is caused by mutations in the ATP7B (WND) gene, which is expressed predominantly in the liver and encodes a copper-transporting P-type ATPase that is structurally and functionally similar to the Menkes protein (MNK), which is defective in the X-linked copper transport disorder Menkes disease. The toxic milk (tx) mouse has a clinical phenotype similar to Wilson disease patients and, recently, the tx mutation within the murine WND homologue (Wnd) of this mouse was identified, establishing it as an animal model for Wilson disease. In this study, cDNA constructs encoding the wild-type (Wnd-wt) and mutant (Wnd-tx) Wilson proteins (Wnd) were generated and expressed in Chinese hamster ovary (CHO) cells. The fx mutation disrupted the copper-induced relocalization of Wnd in CHO cells and abrogated Wnd-mediated copper resistance of transfected CHO cells. In addition, co-localization experiments demonstrated that while Wnd and MNK are located in the trans-Golgi network in basal copper conditions, with elevated copper, these proteins are sorted to different destinations within the same cell, Ultrastructural studies showed that with elevated copper levels, Wnd accumulated in large multivesicular structures resembling late endosomes that may represent a novel compartment for copper transport. The data presented provide further support for a relationship between copper transport activity and the copper-induced relocalization response of mammalian copper ATPases, and an explanation at a molecular level for the observed phenotype of fx mice.

Clinical assessment of HIV-associated lipodystrophy syndrome: bioelectrical impedance analysis, anthropometry and clinical scores

Background Diagnosis of the HIV-associated lipodystrophy syndrome is based on clinical assessment, in lack of a consensus about case definition and reference methods. Three bedside methods were compared in their diagnostic value for lipodystrophy. Patients and Methods. Consecutive HIV-infected outpatients (n = 278) were investigated, 128 of which also had data from 1997 available. Segmental bioelectrical impedance analysis (BIA) and waist, hip and thigh circumferences were performed. Changes in seven body regions were rated by physicians and patients using linear analogue scale assessment (LASA). Diagnostic cut-off values were searched by receiver operator characteristics. Results. Lipodystrophy was diagnosed in 85 patients (31%). BIA demonstrated higher fat-free mass in patients with lipodystrophy but not after controlling for body mass index and sex. Segmental BIA was not superior to whole body BIA in detecting lipodystrophy. Fat-free mass increased from 1997 to 1999 independent from lipodystrophy. Waist-hip and waist-thigh ratios were higher in patients with lipodystrophy. BIA, anthropometry and LASA did not provide sufficient diagnostic cut-off values for lipodystrophy. Agreement between methods, and between patient and physician rating, was poor. Conclusion: These methods do not fulfil the urgent need for quantitative diagnostic tools for lipodystrophy. BIA estimates of fat free mass may be biased by lipodystrophy, indicating a need for re-calibration in HIV infected populations. (C) 2001 Harcourt Publishers Ltd.

Tetrahydrofolates are greatly stabilized by binding to bovine milk folate-binding protein

The dietary supply of folates and their measurement are both affected, potentially, by the instability of some folates. Labile folates appear to be stabilized by binding to folate-binding protein (FBP); this paper reports measurements of that stabilization. The degradation rates of the very labile tetrahydrofolate (H(4)folate) and moderately labile 5-methyltetrahydrofolate (5-CH(3)H(4)folate) were measured with the compounds free or bound to either soluble or immobilized bovine milk FBP. Complexation increased stability from 2- to > 1000-fold, depending on buffer and temperature conditions. H(4)folate at 4degreesC and pH 6.7 appeared to be quite stable for > 100 d when bound to soluble FBP but had a half-life of < 1 h when free. Stabilization of milk folates may be a role of FBP and would improve the bioavailability of milk folate to newborns and other consumers.

Long QT syndrome in dogs with tick toxicity (Ixodes holocyclus)

Objective To evaluate cardiac electrical function in dogs with tick toxicity. Design A prospective clinical investigation of 39 client-owned dogs treated for naturally occurring tick toxicity. Procedure An ECG was performed on each dog on several occasions; at admission to hospital with tick toxicity, 24 h later, at discharge from hospital when clinically normal and approximately 12 months later. Results The mean QT interval corrected for heart rate (QTc) was prolonged at admission, 24 h and at discharge compared to the QTc measured 12 months later. T wave morphology was altered in dogs at admission. All other parameters were within normal limits. Conclusions The prolonged QTc interval and altered T wave morphology of dogs with tick toxicity reflects delayed cardiac repolarisation and is comparable with long QT syndrome (LQTS) in people who are predisposed to polymorphic ventricular tachycardia and sudden death. Resolution of ECG changes lagged behind clinical recovery.